Expresión de búsqueda:
SMITH-MAGENIS SYNDROME
Descriptores Encontrados:
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DeCS
Descriptor
Inglés
:
Smith-Magenis Syndrome
Descriptor
Español
:
Síndrome de Smith-Magenis
Descriptor
Portugués
:
Síndrome de Smith-Magenis
Categoría:
C10.281.900
C16.131.077.879
C16.131.260.887
C16.320.180.887
Definición
Inglés
:
Complex neurobehavioral disorder characterized by distinctive facial features (
FACIES
), developmental delay and
mental retardation
. Behavioral phenotypes include
sleep
disturbance, maladaptive, self-injurious and attention-seeking behaviors. The
sleep
disturbance is linked to an abnormal circadian secretion pattern of
MELATONIN
. The
syndrome
is associated with de novo deletion or
mutation
and
HAPLOINSUFFICIENCY
of the retinoic acid-induced 1 protein on chromosome 17p11.2.
Relacionados
Inglés
:
Chronobiology Disorders
Nota Histórica
Inglés
:
2011
Calificadores Permitidos
Inglés
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Número del Registro:
53964
Identificador Único:
D058496
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS